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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital myopathy 1A
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Accession:DOID:3529 term browser browse the term
Definition:A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (DO)
Synonyms:exact_synonym: CCD;   CCO;   CMYP1A;   Shy Magee syndrome;   central core disease;   central core disease of muscle;   central core diseases;   central core myopathies;   central core myopathy;   congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia;   congenital myopathy with cores
 narrow_synonym: CNMDU1;   Central Core Disease, Autosomal Recessive;   congenital neuromuscular disease with uniform type 1 fiber;   moderate minicore myopathy with hand involvement
 primary_id: MESH:D020512
 alt_id: OMIM:117000
 xref: EFO:1000855;   GARD:6014;   ICD10CM:G71.29;   NCI:C83010;   ORDO:597
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myopathy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
JBrowse link
G ATP13A4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr13:130,436,995...130,590,124
Ensembl chr13:130,440,564...130,589,857
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:33,282,524...33,325,598
Ensembl chr15:33,288,301...33,304,631
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar
OMIM
PMID:12434 PMID:16940 PMID:18253 PMID:1256913 PMID:1329581 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:11709545 PMID:11741831 PMID:12565913 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Developmental Disease 17262
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17176
        genetic disease 17157
          monogenic disease 9928
            autosomal genetic disease 9147
              autosomal dominant disease 6034
                congenital myopathy 1A 7
                  Chudley-Rozdilsky Syndrome 0
                  Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
                  Moderate Minicore Myopathy, with Hand Involvement 0
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        peripheral nervous system disease 3975
          neuropathy 3784
            neuromuscular disease 2970
              muscular disease 2079
                muscle tissue disease 1255
                  myopathy 969
                    congenital myopathy 235
                      congenital myopathy 1A 7
                        Chudley-Rozdilsky Syndrome 0
                        Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
                        Moderate Minicore Myopathy, with Hand Involvement 0
paths to the root